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Browse result for Desbuquois dysplasia

※ introduction

    An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.

Reference
DiseaseOntology: Desbuquois dysplasia


PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD09173Q86Y3864131
XYLT1
Xylosyltransferase 1
Homo sapiens
PTMD10580Q8WVQ112458
CANT1
Soluble calcium-activated nucleotidase 1
Homo sapiens